Associated Papers
A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene.
Efthymiadou A et al.
American Journal of Physiology. Endocrinology and Metabolism, 2023
Pseudohypoaldosteronism type 1b in fraternal twins of a Chinese family: report of two cases and literature review.
Gao Z et al.
Archives of Endocrinology and Metabolism, 2023
Function and Regulation of the Epithelial Na+ Channel ENaC.
Rotin D et al.
Comprehensive Physiology, 2021
Learning Physiology From Inherited Kidney Disorders.
van der Wijst J et al.
Physiological Reviews, 2019
Physiological regulation of the epithelial Na+ channel by casein kinase II.
Berman JM et al.
American Journal of Physiology. Renal Physiology, 2018
Restoration of Epithelial Sodium Channel Function by Synthetic Peptides in Pseudohypoaldosteronism Type 1B Mutants.
Willam A et al.
Frontiers in Pharmacology, 2017
Pseudohypoaldosteronism type 1 and Liddle's syndrome mutations that affect the single-channel properties of the epithelial Na+ channel.
Boiko N et al.
Physiological Reports, 2015
Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1.
Welzel M et al.
European Journal of Endocrinology, 2013
ENaCs and ASICs as therapeutic targets.
Qadri YJ et al.
American Journal of Physiology. Cell Physiology, 2012
Aldosterone resistance: structural and functional considerations and new perspectives.
Zennaro MC et al.
Molecular and Cellular Endocrinology, 2012
A homozygous missense mutation in SCNN1A is responsible for a transient neonatal form of pseudohypoaldosteronism type 1.
Dirlewanger M et al.
American Journal of Physiology. Endocrinology and Metabolism, 2011
Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel.
Riepe FG et al.
Clinical Endocrinology, 2009
Clinical and molecular features of type 1 pseudohypoaldosteronism.
Riepe FG
Hormone Research, 2009
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